NM_000290.4(PGAM2):c.480T>C (p.Ile160=) AND Glycogen storage disease type X
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Dec 5, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001163806.7
Allele description [Variation Report for NM_000290.4(PGAM2):c.480T>C (p.Ile160=)]
NM_000290.4(PGAM2):c.480T>C (p.Ile160=)
Condition(s)
- Name:
- Glycogen storage disease type X (GSD10)
- Synonyms:
- GSD X; PHOSPHOGLYCERATE MUTASE, MUSCLE, DEFICIENCY OF; Dimauro disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009865; MedGen: C0268149; Orphanet: 97234; OMIM: 261670
Assertion and evidence details
Last Updated: Apr 15, 2024